Synonyms
Familial defective ApoB-100; FDB
Definition and Characteristics
Autosomal codominant disorder associated with hypercholesterolemia and premature coronary artery disease [1]. Clinical characteristics of FDB are tendon xanthomas and/or arcus lipoides. The disorder is caused by mutations in the LDL receptor-binding domain of apolipoprotein (apo) B-100.
Prevalence
The frequency of the most common mutation, R3500Q, is 1:300–1:500 in Caucasians. Recently, a new mutation (H3542Y) was identified with higher prevalence in patients who underwent coronary angiography compared to the R3500Q mutations (0.47% vs. 0.12%) [2].
Genes
APOB gene coding for apolipoprotein B localized on chromosome 2p24. To date, five missense mutations have been reported: R3500Q, R3500W, R3531C, R3480W, and H3543Y.
Molecular and Systemic Pathophysiology
ApoB-100 is a ligand for the low density lipoprotein (LDL) receptor and is essential for the receptor-mediated endocytosis of LDL particles. Site B (amino acid...
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References
Innerarity TL et al. (1987) Familial defective apolipoprotein B-100: low density lipoprotein with abnormal receptor binding. Proc Natl Acad Sci USA 84:6919–6923
Soufi M et al. (2004) A new but frequent mutation of apoB-100 – apoB His3543Tyr. Atherosclerosis 174:11–16
Boren J et al. (2001) The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 276:9214–9218
Schaefer JR (1997) Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. Arterisoscl Thromb Vasc Biol 17:348–353
März W et al. (1993) Accumulation of “small dense” low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor. J Clin Invest 92:2922–2933
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Scharnagl, H., März, W. (2009). Ligand-defective Apolipoprotein B-100, Familial. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_616
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DOI: https://doi.org/10.1007/978-3-540-29676-8_616
Publisher Name: Springer, Berlin, Heidelberg
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